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目的总结右位主动脉弓合并迷走左锁骨下动脉(RAA-ALSA)的产前超声表现及染色体核型分析结果。方法回顾性分析我科产前超声诊断为RAA-ALSA的20例胎儿产前、产后超声心动图或尸检病理资料、染色体核型结果及临床结局。结果 20例RAA-ALSA均经产后超声心动图或引产后尸检病理证实,其中19例染色体核型正常,1例21-三体。20例中17例单纯性(其中1例合并微小畸形),均为左位导管;3例复杂性,2例为左位导管,1例为右位导管,合并的心内外畸形分别为:(1)主动脉缩窄、永存左上腔静脉及冠状静脉窦扩张;(2)法四、右心大、冠状静脉窦扩张及单脐动脉;(3)主肺动脉间隔缺损Ⅱ型。17例单纯性RAA均足月活产,随访至今(年龄1~24个月)身体发育好,未出现呼吸道及食管压迫症状,另3例复杂性终止妊娠。结论 RAA-ALSA多为单纯性,合并染色体异常风险小,预后好;产前超声能够准确诊断ALSA-RAA及其合并的心内、外畸形,可为产前咨询及胎儿预后评估提供可靠的科学依据。
Objective To summarize the prenatal ultrasound findings and chromosomal karyotype analysis of right aortic arch combined with vagal left subclavian artery (RAA-ALSA). Methods A retrospective analysis of 20 prenatal and postnatal echocardiographic or autopsy pathological data, chromosomal karyotype results and clinical outcomes of 20 prenatal ultrasound diagnosis of RAA-ALSA in our department was retrospectively analyzed. Results Twenty cases of RAA-ALSA were confirmed by postpartum echocardiography or autopsy post-abortion. Among them, 19 cases had normal karyotype and one case had 21-trisomy. In 20 cases, 17 cases were simple (including 1 case with minor deformity), all of them were left catheterization; 3 cases were complex, 2 cases were left catheterization and 1 case was right catheterization. The combined intracardiac malformations were 1) Aortic constriction, permanent left superior vena cava and coronary sinus dilatation; (2) IV, right heart, coronary sinus dilatation and single umbilical artery; (3) the main pulmonary septal defect type Ⅱ. 17 cases of simple RAA are full-term live birth, up to now (age 1 to 24 months) good body development, no respiratory and esophageal oppression symptoms, and the other three complicated termination of pregnancy. Conclusions RAA-ALSA is mostly simple, with low risk of combined chromosomal abnormalities and good prognosis. Prenatal ultrasound can accurately diagnose ALSA-RAA and its combined intracardiac and external deformities and provide reliable science for prenatal counseling and fetal prognosis evaluation in accordance with.